Ssb Variant Search Result - Rat Genome Database

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150 records found for search term Ssb

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15144405	CV707846	single nucleotide variant	NM_003142.5(SSB):c.12T>C (p.Asn4=)	not provided [RCV000966829]	benign	2	169800972	169800972	Human		name
156097901	CV2206942	single nucleotide variant	NM_003142.5(SSB):c.35C>T (p.Ala12Val)	not specified [RCV004083604]	uncertain significance	2	169800995	169800995	Human		name
156062958	CV2277316	single nucleotide variant	NM_003142.5(SSB):c.116A>G (p.Gln39Arg)	not specified [RCV004142927]	uncertain significance	2	169805523	169805523	Human		name
156132972	CV2350221	single nucleotide variant	NM_003142.5(SSB):c.280A>T (p.Ser94Cys)	not specified [RCV004200131]	uncertain significance	2	169805774	169805774	Human		name
405703425	CV3326943	single nucleotide variant	NM_003142.5(SSB):c.127G>C (p.Asp43His)	not specified [RCV004460725]	uncertain significance	2	169805534	169805534	Human		name
405703435	CV3326944	single nucleotide variant	NM_003142.5(SSB):c.240G>C (p.Met80Ile)	not specified [RCV004460726]	uncertain significance	2	169805734	169805734	Human		name
598174070	CV3922852	single nucleotide variant	NM_003142.5(SSB):c.179G>A (p.Arg60His)	not specified [RCV005285293]	uncertain significance	2	169805673	169805673	Human		name
8629969	CV85116	single nucleotide variant	NM_003142.4(SSB):c.117G>C (p.Gln39His)	Malignant melanoma [RCV000065198]	not provided	2	169805524	169805524	Human		name
155972906	CV2238879	single nucleotide variant	NM_003142.5(SSB):c.654A>C (p.Glu218Asp)	not specified [RCV004109788]	uncertain significance	2	169808887	169808887	Human		name
156299295	CV2248622	single nucleotide variant	NM_003142.5(SSB):c.710C>T (p.Ser237Leu)	not specified [RCV004121807]	uncertain significance	2	169810323	169810323	Human		name
156197373	CV2259264	single nucleotide variant	NM_003142.5(SSB):c.362A>C (p.Asp121Ala)	not specified [RCV004122284]	uncertain significance	2	169806801	169806801	Human		name
155966499	CV2304757	single nucleotide variant	NM_003142.5(SSB):c.865G>A (p.Ala289Thr)	not specified [RCV004166904]	uncertain significance	2	169810912	169810912	Human		name
156327944	CV2332177	single nucleotide variant	NM_003142.5(SSB):c.657A>T (p.Glu219Asp)	not specified [RCV004189213]	uncertain significance	2	169808890	169808890	Human		name
156307941	CV2332178	single nucleotide variant	NM_003142.5(SSB):c.659A>C (p.Asp220Ala)	not specified [RCV004189214]	uncertain significance	2	169808892	169808892	Human		name
156188065	CV2395355	single nucleotide variant	NM_003142.5(SSB):c.559G>A (p.Asp187Asn)	not specified [RCV004239447]	uncertain significance	2	169808486	169808486	Human		name
401723758	CV2684857	single nucleotide variant	NM_003142.5(SSB):c.343A>G (p.Ile115Val)	not specified [RCV004296363]	uncertain significance	2	169805837	169805837	Human		name
401858386	CV2773333	single nucleotide variant	NM_003142.5(SSB):c.684A>C (p.Glu228Asp)	not specified [RCV004353990]	uncertain significance	2	169810297	169810297	Human		name
405703443	CV3326945	single nucleotide variant	NM_003142.5(SSB):c.379A>C (p.Ile127Leu)	not specified [RCV004460727]	uncertain significance	2	169806818	169806818	Human		name
405703452	CV3326946	single nucleotide variant	NM_003142.5(SSB):c.793G>A (p.Val265Ile)	not specified [RCV004460728]	uncertain significance	2	169810406	169810406	Human		name
8625199	CV80318	single nucleotide variant	NM_003142.4(SSB):c.587G>A (p.Arg196Lys)	Malignant melanoma [RCV000060395]	not provided	2	169808514	169808514	Human		name
8625200	CV80319	single nucleotide variant	NM_003142.4(SSB):c.592C>A (p.Gln198Lys)	Malignant melanoma [RCV000060396]	not provided	2	169808519	169808519	Human		name
8625201	CV80320	single nucleotide variant	NM_003142.4(SSB):c.597T>A (p.Asn199Lys)	Malignant melanoma [RCV000060397]	not provided	2	169808524	169808524	Human		name
329381266	CV2464606	single nucleotide variant	NM_003142.5(SSB):c.1000C>G (p.Arg334Gly)	not specified [RCV004278295]	uncertain significance	2	169811185	169811185	Human		name
401744910	CV2697098	single nucleotide variant	NM_003142.5(SSB):c.1085C>T (p.Thr362Met)	not specified [RCV004293076]	uncertain significance	2	169811270	169811270	Human		name
407516887	CV3474906	single nucleotide variant	NM_003142.5(SSB):c.1108C>A (p.His370Asn)	not specified [RCV004675451]	uncertain significance	2	169811293	169811293	Human		name
407526038	CV3474907	single nucleotide variant	NM_003142.5(SSB):c.1114G>C (p.Glu372Gln)	not specified [RCV004679513]	uncertain significance	2	169811299	169811299	Human		name
597779445	CV3611729	single nucleotide variant	NM_003142.5(SSB):c.1103A>G (p.Asp368Gly)	not specified [RCV004873565]	uncertain significance	2	169811288	169811288	Human		name
597681239	CV3611730	single nucleotide variant	NM_003142.5(SSB):c.1000C>T (p.Arg334Cys)	not specified [RCV004857512]	uncertain significance	2	169811185	169811185	Human		name
597779448	CV3611731	single nucleotide variant	NM_003142.5(SSB):c.1001G>T (p.Arg334Leu)	not specified [RCV004873566]	uncertain significance	2	169811186	169811186	Human		name
408377427	CV3500741	microsatellite	NM_003142.5(SSB):c.1108CATGATGAA[1] (p.370HDE[1])	not provided [RCV004722391]	likely benign	2	169811285	169811293	Human		name
405265395	CV3185620	single nucleotide variant	NM_003143.3(SSBP1):c.25-7T>A	not provided [RCV003886184]	likely benign	7	141742162	141742162	Human		name
596941543	CV3408237	duplication	NM_003143.3(SSBP1):c.24+3dup	Retinal dystrophy [RCV004815908]	uncertain significance	7	141739192	141739193	Human	2	name
8581238	CV115675	single nucleotide variant	NM_001256732.1(SSBP2):c.712-3131A>T	Lung cancer [RCV000096198]	uncertain significance	5	81451956	81451956	Human		name
8581240	CV115677	single nucleotide variant	NM_001256732.1(SSBP2):c.63-24111C>A	Lung cancer [RCV000096200]	uncertain significance	5	81674450	81674450	Human		name
8581241	CV115678	single nucleotide variant	NM_001256732.1(SSBP2):c.63-46374G>A	Lung cancer [RCV000096201]	uncertain significance	5	81696713	81696713	Human		name
8581242	CV115679	single nucleotide variant	NM_001256732.1(SSBP2):c.63-48753A>G	Lung cancer [RCV000096202]	uncertain significance	5	81699092	81699092	Human		name
8575990	CV110345	single nucleotide variant	NM_001009955.3(SSBP3):c.276+10485G>C	Lung cancer [RCV000090868]	uncertain significance	1	54391376	54391376	Human		name
155966441	CV2329800	single nucleotide variant	NM_145716.4(SSBP3):c.8C>T (p.Ala3Val)	not specified [RCV004183266]	uncertain significance	1	54406001	54406001	Human		name
401742585	CV2673821	single nucleotide variant	NM_032627.5(SSBP4):c.17G>C (p.Gly6Ala)	not specified [RCV004293204]	uncertain significance	19	18419665	18419665	Human		name
401763400	CV2720307	single nucleotide variant	NM_032627.5(SSBP4):c.13G>C (p.Gly5Arg)	not specified [RCV004325632]	uncertain significance	19	18419661	18419661	Human		name
401858632	CV2750623	single nucleotide variant	NM_003143.3(SSBP1):c.25G>A (p.Val9Ile)	Inborn genetic diseases [RCV004334126]\|not provided [RCV003334296]	uncertain significance	7	141742169	141742169	Human	1	name
596944595	CV3408902	single nucleotide variant	NM_003143.3(SSBP1):c.13C>T (p.Pro5Ser)	Optic atrophy [RCV004817555]	uncertain significance	7	141739179	141739179	Human	2	name
598174101	CV3922857	single nucleotide variant	NM_145716.4(SSBP3):c.19G>A (p.Gly7Ser)	not specified [RCV005285298]	uncertain significance	1	54405990	54405990	Human		name
150536102	CV1312276	deletion	NM_145716.4(SSBP3):c.177del (p.Leu59fs)	Neurodevelopmental disorder [RCV001780038]	uncertain significance	1	54404590	54404590	Human	1	name
156139581	CV2354786	single nucleotide variant	NM_003143.3(SSBP1):c.32G>A (p.Arg11His)	Inborn genetic diseases [RCV003003865]	likely benign	7	141742176	141742176	Human	1	name
401897954	CV2769824	single nucleotide variant	NM_003143.3(SSBP1):c.35A>G (p.Gln12Arg)	Inborn genetic diseases [RCV003376103]	uncertain significance	7	141742179	141742179	Human	1	name
401927736	CV2812812	single nucleotide variant	NM_145716.4(SSBP3):c.852C>T (p.Pro284=)	not provided [RCV003406504]	likely benign	1	54240909	54240909	Human		name
405703462	CV3326947	single nucleotide variant	NM_003143.3(SSBP1):c.61A>T (p.Thr21Ser)	Inborn genetic diseases [RCV004460729]	uncertain significance	7	141742205	141742205	Human	1	name
405703537	CV3326957	single nucleotide variant	NM_032627.5(SSBP4):c.57G>C (p.Glu19Asp)	not specified [RCV004460739]	uncertain significance	19	18419705	18419705	Human		name
597779460	CV3611737	single nucleotide variant	NM_145716.4(SSBP3):c.95G>A (p.Gly32Glu)	not specified [RCV004873569]	uncertain significance	1	54404892	54404892	Human		name
598174076	CV3922853	single nucleotide variant	NM_003143.3(SSBP1):c.94C>T (p.Arg32Cys)	Inborn genetic diseases [RCV005285294]	uncertain significance	7	141743569	141743569	Human	1	name
598174081	CV3922854	single nucleotide variant	NM_003143.3(SSBP1):c.95G>A (p.Arg32His)	Inborn genetic diseases [RCV005285295]	uncertain significance	7	141743570	141743570	Human	1	name
156266209	CV2329588	single nucleotide variant	NM_032627.5(SSBP4):c.104A>G (p.Gln35Arg)	not specified [RCV004180710]	uncertain significance	19	18427395	18427395	Human		name
156435404	CV2403543	duplication	NM_145716.4(SSBP3):c.729dup (p.Gly244fs)	Developmental disorder [RCV003128005]	uncertain significance	1	54242199	54242200	Human	1	name
401773970	CV2727691	single nucleotide variant	NM_032627.5(SSBP4):c.292G>A (p.Ala98Thr)	not specified [RCV004329861]	uncertain significance	19	18430853	18430853	Human		name
401867081	CV2792600	single nucleotide variant	NM_003143.3(SSBP1):c.259A>C (p.Ile87Leu)	Inborn genetic diseases [RCV003379853]	uncertain significance	7	141743934	141743934	Human	1	name
405703496	CV3326951	single nucleotide variant	NM_145716.4(SSBP3):c.109G>A (p.Ala37Thr)	not specified [RCV004460733]	uncertain significance	1	54404878	54404878	Human		name
407516890	CV3474908	single nucleotide variant	NM_003143.3(SSBP1):c.203G>C (p.Gly68Ala)	Inborn genetic diseases [RCV004675452]	uncertain significance	7	141743678	141743678	Human	1	name
597779457	CV3611736	single nucleotide variant	NM_145716.4(SSBP3):c.268C>T (p.His90Tyr)	not specified [RCV004873568]	uncertain significance	1	54401869	54401869	Human		name
597681315	CV3611744	single nucleotide variant	NM_032627.5(SSBP4):c.167C>A (p.Pro56His)	not specified [RCV004857521]	uncertain significance	19	18427786	18427786	Human		name
598174139	CV3922863	single nucleotide variant	NM_032627.5(SSBP4):c.251C>T (p.Ser84Phe)	not specified [RCV005285303]	uncertain significance	19	18427954	18427954	Human		name
38467495	CV920774	single nucleotide variant	NM_003143.3(SSBP1):c.166A>G (p.Ile56Val)	not provided [RCV001200298]	uncertain significance	7	141743641	141743641	Human		name
39456191	CV965634	single nucleotide variant	NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln)	Cone-rod dystrophy [RCV003324557]\|Optic atrophy 13 with retinal and foveal abnormalities [RCV001255184]	pathogenic	7	141743588	141743588	Human	4	name
39456193	CV965637	single nucleotide variant	NM_003143.3(SSBP1):c.119G>T (p.Gly40Val)	Optic atrophy 13 with retinal and foveal abnormalities [RCV001255187]	pathogenic\|likely pathogenic	7	141743594	141743594	Human	1	name
156315820	CV2192953	single nucleotide variant	NM_032627.5(SSBP4):c.353C>T (p.Ala118Val)	not specified [RCV004069511]	uncertain significance	19	18430914	18430914	Human		name
156262773	CV2201115	single nucleotide variant	NM_145716.4(SSBP3):c.664G>A (p.Gly222Ser)	not specified [RCV004077280]	uncertain significance	1	54243287	54243287	Human		name
156237052	CV2206774	single nucleotide variant	NM_032627.5(SSBP4):c.858C>G (p.Ser286Arg)	not specified [RCV004083458]	uncertain significance	19	18432989	18432989	Human		name
156117023	CV2209131	single nucleotide variant	NM_032627.5(SSBP4):c.713G>C (p.Gly238Ala)	not specified [RCV004093353]	uncertain significance	19	18432567	18432567	Human		name
155992497	CV2255844	single nucleotide variant	NM_145716.4(SSBP3):c.722C>T (p.Pro241Leu)	not specified [RCV004122005]	uncertain significance	1	54242207	54242207	Human		name
156156453	CV2266216	single nucleotide variant	NM_145716.4(SSBP3):c.524C>T (p.Pro175Leu)	not specified [RCV004128786]	uncertain significance	1	54251844	54251844	Human		name
156069398	CV2270979	single nucleotide variant	NM_032627.5(SSBP4):c.497C>T (p.Pro166Leu)	not specified [RCV004132006]	uncertain significance	19	18431794	18431794	Human		name
156129347	CV2279670	single nucleotide variant	NM_032627.5(SSBP4):c.706G>A (p.Gly236Ser)	not specified [RCV004144294]	uncertain significance	19	18432560	18432560	Human		name
155967333	CV2280342	single nucleotide variant	NM_145716.4(SSBP3):c.485C>T (p.Pro162Leu)	not specified [RCV004140534]	uncertain significance	1	54257149	54257149	Human		name
156288899	CV2299262	single nucleotide variant	NM_032627.5(SSBP4):c.620C>T (p.Ala207Val)	not specified [RCV004152591]	uncertain significance	19	18432054	18432054	Human		name
156278365	CV2316681	single nucleotide variant	NM_145716.4(SSBP3):c.938G>C (p.Gly313Ala)	not specified [RCV004171913]	uncertain significance	1	54228816	54228816	Human		name
156363126	CV2330546	single nucleotide variant	NM_145716.4(SSBP3):c.469G>A (p.Ala157Thr)	not specified [RCV004181110]	uncertain significance	1	54257165	54257165	Human		name
155972516	CV2334345	single nucleotide variant	NM_032627.5(SSBP4):c.425C>T (p.Pro142Leu)	not specified [RCV004188323]	uncertain significance	19	18431408	18431408	Human		name
156341872	CV2344986	single nucleotide variant	NM_032627.5(SSBP4):c.451C>T (p.Arg151Cys)	not specified [RCV004193276]	uncertain significance	19	18431662	18431662	Human		name
156215663	CV2347882	single nucleotide variant	NM_145716.4(SSBP3):c.323A>G (p.Asn108Ser)	not specified [RCV004195530]	uncertain significance	1	54281481	54281481	Human		name
156346059	CV2373019	single nucleotide variant	NM_032627.5(SSBP4):c.557G>C (p.Arg186Pro)	not specified [RCV004224046]	uncertain significance	19	18431854	18431854	Human		name
155993266	CV2379398	single nucleotide variant	NM_032627.5(SSBP4):c.641A>G (p.Tyr214Cys)	not specified [RCV004223849]	uncertain significance	19	18432151	18432151	Human		name
155970688	CV2392309	single nucleotide variant	NM_032627.5(SSBP4):c.502G>T (p.Ala168Ser)	not specified [RCV004243910]	uncertain significance	19	18431799	18431799	Human		name
329398966	CV2428606	single nucleotide variant	NM_032627.5(SSBP4):c.890G>A (p.Gly297Glu)	not specified [RCV004255412]	uncertain significance	19	18433021	18433021	Human		name
329354067	CV2436892	single nucleotide variant	NM_032627.5(SSBP4):c.449C>T (p.Pro150Leu)	not specified [RCV004260278]	uncertain significance	19	18431660	18431660	Human		name
329401269	CV2442270	single nucleotide variant	NM_032627.5(SSBP4):c.529C>G (p.Leu177Val)	not specified [RCV004264752]	uncertain significance	19	18431826	18431826	Human		name
329377530	CV2451784	single nucleotide variant	NM_032627.5(SSBP4):c.482G>T (p.Arg161Leu)	not specified [RCV004276469]	uncertain significance	19	18431693	18431693	Human		name
329395901	CV2454686	single nucleotide variant	NM_145716.4(SSBP3):c.407C>T (p.Pro136Leu)	not specified [RCV004269926]	uncertain significance	1	54258109	54258109	Human		name
329359778	CV2462281	single nucleotide variant	NM_032627.5(SSBP4):c.793C>T (p.Pro265Ser)	not specified [RCV004266273]	uncertain significance	19	18432835	18432835	Human		name
401736909	CV2679180	single nucleotide variant	NM_032627.5(SSBP4):c.349A>G (p.Met117Val)	not specified [RCV004285741]	uncertain significance	19	18430910	18430910	Human		name
401766460	CV2679699	single nucleotide variant	NM_032627.5(SSBP4):c.589A>G (p.Met197Val)	not specified [RCV004282169]	uncertain significance	19	18432023	18432023	Human		name
401754824	CV2682311	single nucleotide variant	NM_032627.5(SSBP4):c.583G>A (p.Gly195Ser)	not specified [RCV004290351]	uncertain significance	19	18432017	18432017	Human		name
401757397	CV2692978	single nucleotide variant	NM_032627.5(SSBP4):c.821C>A (p.Pro274His)	not specified [RCV004306491]	uncertain significance	19	18432863	18432863	Human		name
401725914	CV2698957	single nucleotide variant	NM_145716.4(SSBP3):c.981G>C (p.Glu327Asp)	not specified [RCV004303493]	uncertain significance	1	54228773	54228773	Human		name
401884259	CV2762826	single nucleotide variant	NM_032627.5(SSBP4):c.350T>C (p.Met117Thr)	not specified [RCV004340376]	uncertain significance	19	18430911	18430911	Human		name
401896689	CV2791937	single nucleotide variant	NM_032627.5(SSBP4):c.839G>A (p.Gly280Glu)	not specified [RCV004359366]	uncertain significance	19	18432881	18432881	Human		name
405703504	CV3326952	single nucleotide variant	NM_145716.4(SSBP3):c.488C>T (p.Pro163Leu)	not specified [RCV004460734]	uncertain significance	1	54257146	54257146	Human		name
405703511	CV3326953	single nucleotide variant	NM_145716.4(SSBP3):c.667A>G (p.Met223Val)	not specified [RCV004460735]	uncertain significance	1	54243284	54243284	Human		name
405703530	CV3326956	single nucleotide variant	NM_032627.5(SSBP4):c.502G>A (p.Ala168Thr)	not specified [RCV004460738]	uncertain significance	19	18431799	18431799	Human		name
405703544	CV3326958	single nucleotide variant	NM_032627.5(SSBP4):c.602C>T (p.Thr201Met)	not specified [RCV004460740]	uncertain significance	19	18432036	18432036	Human		name
405703550	CV3326959	single nucleotide variant	NM_032627.5(SSBP4):c.610C>T (p.Arg204Cys)	not specified [RCV004460741]	uncertain significance	19	18432044	18432044	Human		name
405703557	CV3326960	single nucleotide variant	NM_032627.5(SSBP4):c.653T>C (p.Met218Thr)	not specified [RCV004460742]	uncertain significance	19	18432163	18432163	Human		name
407516896	CV3474910	single nucleotide variant	NM_145716.4(SSBP3):c.880A>G (p.Ile294Val)	not specified [RCV004675454]	uncertain significance	1	54239176	54239176	Human		name
407516900	CV3474911	single nucleotide variant	NM_032627.5(SSBP4):c.469C>T (p.Arg157Trp)	not specified [RCV004675455]	uncertain significance	19	18431680	18431680	Human		name
407526042	CV3474912	single nucleotide variant	NM_032627.5(SSBP4):c.867G>A (p.Met289Ile)	not specified [RCV004679514]	uncertain significance	19	18432998	18432998	Human		name
407526045	CV3474913	single nucleotide variant	NM_032627.5(SSBP4):c.773C>G (p.Pro258Arg)	not specified [RCV004679515]	uncertain significance	19	18432722	18432722	Human		name
407526049	CV3474914	single nucleotide variant	NM_032627.5(SSBP4):c.683C>G (p.Pro228Arg)	not specified [RCV004679516]	uncertain significance	19	18432193	18432193	Human		name
596947538	CV3549096	single nucleotide variant	NM_003143.3(SSBP1):c.347A>G (p.Tyr116Cys)	not provided [RCV004811420]	uncertain significance	7	141745528	141745528	Human		name
597681267	CV3611734	single nucleotide variant	NM_145716.4(SSBP3):c.373C>G (p.Pro125Ala)	not specified [RCV004857515]	uncertain significance	1	54258143	54258143	Human		name
597779453	CV3611735	single nucleotide variant	NM_145716.4(SSBP3):c.634A>G (p.Met212Val)	not specified [RCV004873567]	uncertain significance	1	54251633	54251633	Human		name
597681275	CV3611738	single nucleotide variant	NM_032627.5(SSBP4):c.397C>A (p.His133Asn)	not specified [RCV004857516]	uncertain significance	19	18431380	18431380	Human		name
597681283	CV3611739	single nucleotide variant	NM_032627.5(SSBP4):c.876C>G (p.Ile292Met)	not specified [RCV004857517]	uncertain significance	19	18433007	18433007	Human		name
597681291	CV3611740	single nucleotide variant	NM_032627.5(SSBP4):c.566G>T (p.Gly189Val)	not specified [RCV004857518]	uncertain significance	19	18432000	18432000	Human		name
597779464	CV3611741	single nucleotide variant	NM_032627.5(SSBP4):c.907G>T (p.Ala303Ser)	not specified [RCV004873570]	uncertain significance	19	18433038	18433038	Human		name
597681298	CV3611742	single nucleotide variant	NM_032627.5(SSBP4):c.319G>A (p.Ala107Thr)	not specified [RCV004857519]	uncertain significance	19	18430880	18430880	Human		name
597681307	CV3611743	single nucleotide variant	NM_032627.5(SSBP4):c.548C>G (p.Pro183Arg)	not specified [RCV004857520]	uncertain significance	19	18431845	18431845	Human		name
598174106	CV3922858	single nucleotide variant	NM_145716.4(SSBP3):c.479C>T (p.Pro160Leu)	not specified [RCV005285299]	uncertain significance	1	54257155	54257155	Human		name
598174113	CV3922859	single nucleotide variant	NM_145716.4(SSBP3):c.593G>T (p.Gly198Val)	not specified [RCV005285300]	uncertain significance	1	54251674	54251674	Human		name
598213019	CV3922861	single nucleotide variant	NM_032627.5(SSBP4):c.886A>C (p.Ile296Leu)	not specified [RCV005271049]	uncertain significance	19	18433017	18433017	Human		name
598174132	CV3922862	single nucleotide variant	NM_032627.5(SSBP4):c.436C>T (p.Pro146Ser)	not specified [RCV005285302]	uncertain significance	19	18431647	18431647	Human		name
598174167	CV3922867	single nucleotide variant	NM_032627.5(SSBP4):c.379G>A (p.Gly127Ser)	not specified [RCV005285307]	uncertain significance	19	18431362	18431362	Human		name
8626049	CV81193	single nucleotide variant	NM_012446.3(SSBP2):c.709C>T (p.Pro237Ser)	Malignant melanoma [RCV000061271]	not provided	5	81448804	81448804	Human		name
8631725	CV86931	single nucleotide variant	NM_012446.3(SSBP2):c.731C>T (p.Pro244Leu)	Malignant melanoma [RCV000067022]	not provided	5	81446915	81446915	Human		name
39456211	CV965635	single nucleotide variant	NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln)	Optic atrophy 13 with retinal and foveal abnormalities [RCV001255185]\|not provided [RCV001268036]	pathogenic	7	141745501	141745501	Human	1	name
39456192	CV965636	single nucleotide variant	NM_003143.3(SSBP1):c.422G>A (p.Ser141Asn)	Optic atrophy 13 with retinal and foveal abnormalities [RCV001255186]	pathogenic	7	141750329	141750329	Human	1	name
39456194	CV965638	single nucleotide variant	NM_003143.3(SSBP1):c.394A>G (p.Ile132Val)	not provided [RCV001255188]	uncertain significance	7	141745575	141745575	Human		name
156079554	CV2226552	single nucleotide variant	NM_001256732.3(SSBP2):c.34G>A (p.Val12Ile)	not specified [RCV004101810]	uncertain significance	5	81751009	81751009	Human		name
156278516	CV2227554	single nucleotide variant	NM_032627.5(SSBP4):c.1152C>A (p.Ser384Arg)	not specified [RCV004092199]	uncertain significance	19	18434240	18434240	Human		name
156140180	CV2247008	single nucleotide variant	NM_001256732.3(SSBP2):c.91C>T (p.Leu31Phe)	not specified [RCV004114573]	uncertain significance	5	81650311	81650311	Human		name
329402845	CV2451447	single nucleotide variant	NM_032627.5(SSBP4):c.1075G>A (p.Asp359Asn)	not specified [RCV004272120]	uncertain significance	19	18433764	18433764	Human		name
405703484	CV3326950	single nucleotide variant	NM_145716.4(SSBP3):c.1093G>A (p.Gly365Ser)	not specified [RCV004460732]	uncertain significance	1	54228299	54228299	Human		name
405703517	CV3326954	single nucleotide variant	NM_032627.5(SSBP4):c.1025C>T (p.Ser342Phe)	not specified [RCV004460736]	uncertain significance	19	18433714	18433714	Human		name
405703523	CV3326955	single nucleotide variant	NM_032627.5(SSBP4):c.1097G>T (p.Gly366Val)	not specified [RCV004460737]	uncertain significance	19	18433786	18433786	Human		name
12741229	CV359714	duplication	NM_001256732.3(SSBP2):c.152dup (p.Asn51fs)	not specified [RCV000414474]	uncertain significance	5	81636601	81636602	Human		name
598174123	CV3922860	single nucleotide variant	NM_032627.5(SSBP4):c.1121G>A (p.Ser374Asn)	not specified [RCV005285301]	uncertain significance	19	18433810	18433810	Human		name
598174160	CV3922866	single nucleotide variant	NM_032627.5(SSBP4):c.1003A>G (p.Met335Val)	not specified [RCV005285306]	uncertain significance	19	18433596	18433596	Human		name
156226633	CV2352763	single nucleotide variant	NM_001256732.3(SSBP2):c.112T>G (p.Ser38Ala)	not specified [RCV004198780]	uncertain significance	5	81650290	81650290	Human		name
597681256	CV3611733	single nucleotide variant	NM_001256732.3(SSBP2):c.239A>G (p.Glu80Gly)	not specified [RCV004857514]	uncertain significance	5	81615516	81615516	Human		name
9686981	CV171405	single nucleotide variant	NM_001256732.3(SSBP2):c.743A>T (p.Tyr248Phe)	Prostate cancer [RCV000149200]	uncertain significance	5	81448794	81448794	Human	2	name
156175739	CV2331119	single nucleotide variant	NM_001256732.3(SSBP2):c.745G>A (p.Val249Ile)	not specified [RCV004181732]	uncertain significance	5	81448792	81448792	Human		name
156216458	CV2348008	single nucleotide variant	NM_001256732.3(SSBP2):c.962A>G (p.Asp321Gly)	not specified [RCV004197691]	uncertain significance	5	81437449	81437449	Human		name
401762565	CV2696167	single nucleotide variant	NM_001256732.3(SSBP2):c.565C>T (p.Pro189Ser)	not specified [RCV004310221]	uncertain significance	5	81473705	81473705	Human		name
401734544	CV2709532	single nucleotide variant	NM_001256732.3(SSBP2):c.991A>G (p.Asn331Asp)	not specified [RCV004318769]	uncertain significance	5	81428674	81428674	Human		name
401890542	CV2778855	single nucleotide variant	NM_001256732.3(SSBP2):c.830A>G (p.Tyr277Cys)	not specified [RCV004346745]	uncertain significance	5	81442696	81442696	Human		name
405703474	CV3326949	single nucleotide variant	NM_001256732.3(SSBP2):c.674G>A (p.Gly225Asp)	not specified [RCV004460731]	uncertain significance	5	81461092	81461092	Human		name
407516892	CV3474909	single nucleotide variant	NM_001256732.3(SSBP2):c.389G>A (p.Arg130Gln)	not specified [RCV004675453]	uncertain significance	5	81489293	81489293	Human		name
597681248	CV3611732	single nucleotide variant	NM_001256732.3(SSBP2):c.523A>G (p.Met175Val)	not specified [RCV004857513]	uncertain significance	5	81473747	81473747	Human		name
598174086	CV3922855	single nucleotide variant	NM_001256732.3(SSBP2):c.808A>G (p.Thr270Ala)	not specified [RCV005285296]	uncertain significance	5	81442718	81442718	Human		name
598174094	CV3922856	single nucleotide variant	NM_001256732.3(SSBP2):c.837A>C (p.Leu279Phe)	not specified [RCV005285297]	uncertain significance	5	81442689	81442689	Human		name
41405582	CV981505	single nucleotide variant	NM_001256732.3(SSBP2):c.971G>C (p.Ser324Thr)	not provided [RCV001813073]	uncertain significance	5	81437440	81437440	Human		name
8629596	CV84743	single nucleotide variant	NM_001009955.3(SSBP3):c.1040C>T (p.Ser347Phe)	Malignant melanoma [RCV000064825]	not provided	1	54228271	54228271	Human		name

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